Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Cyp1b1'

504791

Institutional Source

Beutler Lab

Gene Symbol

Cyp1b1

Ensembl Gene

ENSMUSG00000024087

Gene Name

cytochrome P450, family 1, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

044361-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80014369-80022490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80021695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 16 (L16M)

Ref Sequence

ENSEMBL: ENSMUSP00000024894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024894]

AlphaFold

Q64429

Predicted Effect

probably damaging
Transcript: ENSMUST00000024894
AA Change: L16M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024894
Gene: ENSMUSG00000024087
AA Change: L16M

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:p450	51	520	1.3e-100	PFAM

Meta Mutation Damage Score

0.1554

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,338,411 (GRCm39)	N437I	probably benign	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgrg7	T	A	16: 56,599,005 (GRCm39)	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Ankrd9	A	T	12: 110,943,554 (GRCm39)	I160N	probably damaging	Het
Aoc1l2	A	G	6: 48,907,899 (GRCm39)	T300A	probably benign	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,751,714 (GRCm39)	L247R	probably damaging	Het
Dhrs7l	T	C	12: 72,666,341 (GRCm39)	Y110C	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dmkn	C	A	7: 30,479,104 (GRCm39)	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsc3	C	T	18: 20,098,852 (GRCm39)	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,335,526 (GRCm39)		probably null	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eny2	A	G	15: 44,297,056 (GRCm39)		probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,169,073 (GRCm39)	S22P	unknown	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Fcrlb	A	G	1: 170,736,458 (GRCm39)	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Gna12	A	G	5: 140,746,447 (GRCm39)	F333L	possibly damaging	Het
Gria2	A	G	3: 80,614,510 (GRCm39)	I510T	probably damaging	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,529,256 (GRCm39)	T310A	probably benign	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,905,697 (GRCm39)	N90S	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,099,412 (GRCm39)	D1520E	probably benign	Het
Lrrc37	A	T	11: 103,504,214 (GRCm39)	L2585I	probably damaging	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myh7b	C	T	2: 155,473,719 (GRCm39)	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5b118	T	C	19: 13,449,104 (GRCm39)	Y257H	probably damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or6c209	T	C	10: 129,483,165 (GRCm39)	M56T	probably benign	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pilra	T	C	5: 137,821,763 (GRCm39)	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610 (GRCm39)	D630Y	probably damaging	Het
Pros1	A	C	16: 62,719,284 (GRCm39)	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,495,462 (GRCm39)	D407G	probably benign	Het
Rapgef5	G	A	12: 117,703,453 (GRCm39)		probably null	Het
Rbm25	G	A	12: 83,706,200 (GRCm39)	A182T	probably benign	Het
Rnf13	A	G	3: 57,740,391 (GRCm39)	E236G	possibly damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984 (GRCm39)	I119F	probably damaging	Het
Shoc1	T	A	4: 59,076,245 (GRCm39)	D566V	possibly damaging	Het
Slc12a7	T	C	13: 73,953,590 (GRCm39)	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,757,497 (GRCm39)	I258T	probably damaging	Het
Spata13	G	A	14: 60,929,456 (GRCm39)	R338H	probably benign	Het
Sufu	G	A	19: 46,464,071 (GRCm39)	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,566,600 (GRCm39)	D125G	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tenm3	A	C	8: 48,870,094 (GRCm39)	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tspan11	T	C	6: 127,915,227 (GRCm39)	Y114H	probably damaging	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Usp44	G	A	10: 93,686,202 (GRCm39)	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,519,099 (GRCm39)	P508S	probably benign	Het
Zfp831	A	G	2: 174,488,490 (GRCm39)	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het

Other mutations in Cyp1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0387:Cyp1b1	UTSW	17	80,021,203 (GRCm39)	missense	probably benign
R0400:Cyp1b1	UTSW	17	80,021,016 (GRCm39)	missense	probably damaging	1.00
R0456:Cyp1b1	UTSW	17	80,017,704 (GRCm39)	missense	probably benign	0.02
R0681:Cyp1b1	UTSW	17	80,021,275 (GRCm39)	missense	probably damaging	0.97
R2851:Cyp1b1	UTSW	17	80,017,649 (GRCm39)	missense	probably benign	0.00
R2897:Cyp1b1	UTSW	17	80,021,160 (GRCm39)	missense	probably benign	0.00
R4706:Cyp1b1	UTSW	17	80,020,771 (GRCm39)	missense	possibly damaging	0.86
R5070:Cyp1b1	UTSW	17	80,018,040 (GRCm39)	missense	probably benign
R6104:Cyp1b1	UTSW	17	80,017,634 (GRCm39)	missense	probably damaging	1.00
R6195:Cyp1b1	UTSW	17	80,021,695 (GRCm39)	missense	probably damaging	1.00
R7440:Cyp1b1	UTSW	17	80,020,986 (GRCm39)	missense	probably damaging	0.99
R7770:Cyp1b1	UTSW	17	80,020,728 (GRCm39)	missense	probably damaging	1.00
R7894:Cyp1b1	UTSW	17	80,021,644 (GRCm39)	missense	possibly damaging	0.81
R7982:Cyp1b1	UTSW	17	80,017,919 (GRCm39)	missense	probably damaging	1.00
R8241:Cyp1b1	UTSW	17	80,021,223 (GRCm39)	missense	probably damaging	1.00
R8528:Cyp1b1	UTSW	17	80,017,993 (GRCm39)	missense	probably damaging	1.00
R8814:Cyp1b1	UTSW	17	80,020,788 (GRCm39)	missense	probably benign	0.02
R9743:Cyp1b1	UTSW	17	80,017,808 (GRCm39)	missense	probably benign	0.33
X0067:Cyp1b1	UTSW	17	80,018,120 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGACGGATCTGGAAAACGTC -3'
(R):5'- ACCTGAATTATGCACTGCCTCC -3'

Sequencing Primer
(F):5'- TCTGGAAAACGTCGCCATAG -3'
(R):5'- CTCTCTACTCAATCCCAGGGTAAAG -3'

Posted On

2018-02-28